Nucleic acids encoding human TBC-1 protein and polymorphic markers thereof

Abstract

The invention concerns genomic and cDNA sequences of the human TBC-1 Gene. The invention also concerns polypeptides encoded by the TBC-1 gene. The invention also deals with antibodies directed specifically against such polypeptides that are useful as diagnostic reagents. The invention further encompasses biallelic markers of the TBC-1 gene useful in genetic analysis.

What is claimed is:  
     
       1. A composition comprising: an isolated, purified, or recombinant polynucleotide which encodes a polypeptide comprising 6 amino acids of SEQ ID NO:5 or the complement thereof, provided that said polypeptide is not murine TBC-1. 
     
     
       2. A composition comprising an isolated, purified, or recombinant human polynucleotide which encodes a polypeptide comprising 6 amino acids of SEQ ID NO:5 or the complement thereof. 
     
     
       3. An isolated, purified, or recombinant polynucleotide which: a) encodes a polypeptide comprising SEQ ID NO: 5; b) comprises nucleotides 171 to 3725 of SEQ ID NO: 3; or c) the complement thereof. 
     
     
       4. The isolated, purified, or recombinant polynucleotide according to  claim 3  attached to a solid support. 
     
     
       5. The isolated, purified, or recombinant polynucleotide according to  claim 4 , wherein said polynucleotide encodes a polypeptide comprising SEQ ID NO: 5. 
     
     
       6. The isolated, purified, or recombinant polynucleotide according to  claim 4 , wherein said polynucleotide comprises nucleotides 171 to 3725 of SEQ ID NO: 3. 
     
     
       7. The isolated, purified, or recombinant polynucleotide according to  claim 3 , wherein said polynucleotide encodes a polypeptide comprising SEQ ID NO: 5. 
     
     
       8. The isolated, purified, or recombinant polynucleotide according to  claim 3 , wherein said polynucleotide comprises nucleotides 171 to 3725 of SEQ ID NO: 3. 
     
     
       9. An array of polynucleotides comprising at least one isolated, purified, or recombinant polynucleotides which: a) encodes a polypeptide comprising SEQ ID NO: 5; b) comprises nucleotides 171 to 3725 of SEQ ID NO: 3; or e) the complement thereof. 
     
     
       10. The array according to  claim 9 , wherein said polynucleotide encodes a polypeptide comprising SEQ ID NO: 5. 
     
     
       11. The array according to  claim 9 , wherein said polynucleotide comprises nucleotides 171 to 3725 of SEQ ID NO: 3. 
     
     
       12. The array according to  claim 9 , wherein said array is addressable. 
     
     
       13. The array according to  claim 10 , wherein said array is addressable. 
     
     
       14. The array according to  claim 11 , wherein said array is addressable. 
     
     
       15. The isolated, purified, or recombinant polynucleotide according to  claim 5 , further comprising a label. 
     
     
       16. The isolated, purified, or recombinant polynucleotide according to  claim 6 , further comprising a label. 
     
     
       17. A composition comprising: a recombinant vector comprising a polynucleotide which: a) encodes a polypeptide comprising SEQ ID NO: 5; b) comprises nucleotides 171 to 3725 of SEQ ID NO: 3; or c) the complement thereof. 
     
     
       18. The composition according to  claim 17 , wherein said recombinant vector comprises a polynucleotide which encodes a polypeptide comprising SEQ ID NO: 5. 
     
     
       19. The composition according to  claim 17 , wherein said recombinant vector comprises nucleotides 171 to 3725 of SEQ ID NO: 3. 
     
     
       20. A composition comprising: a host cell comprising a recombinant vector comprising a polynucleotide which: a) encodes a polypeptide comprising SEQ ID NO: 5; b) comprises nucleotides 171 to 3725 of SEQ ID NO: 3; or c) the complement thereof. 
     
     
       21. The composition according to  claim 20 , wherein said recombinant vector comprises a polynucleotide which encodes a polypeptide comprising SEQ ID NO: 5. 
     
     
       22. The composition according to  claim 20 , wherein said recombinant vector comprises nucleotides 171 to 3725 of SEQ ID NO: 3. 
     
     
       23. A method of making a TBC-1 polypeptide comprising the steps of: 
       (i) obtaining a host cell comprising a recombinant vector comprising a polynucleotide which: a) encodes a polypeptide comprising SEQ ID NO: 5 or b) comprises nucleotides 171 to 3725 of SEQ ID NO: 3,  
       (ii) growing said cell under conditions suitable to produce said polypeptide.  
     
     
       24. The method according to  claim 23 , wherein said recombinant vector comprises a polynucleotide which encodes a polypeptide comprising SEQ ID NO: 5. 
     
     
       25. The method according to  claim 23 , wherein said recombinant vector comprises nucleotides 171 to 3725 of SEQ ID NO: 3. 
     
     
       26. The method according to  claim 24 , further comprising the step of purifying of isolating said polypeptide. 
     
     
       27. The method according to  claim 25 , further comprising the step of purifying or isolating said polypeptide. 
     
     
       28. A composition comprising an isolated, purified, or recombinant polynucleotide comprising a nucleotide sequence selected from the group consisting of the nucleotide sequences of SEQ ID NOs: 3 and 4, or the complements thereof. 
     
     
       29. A method of making a TBC-1 polypeptide comprising the steps of: 
       (i) obtaining a host cell comprising a recombinant vector comprising a polynucleotide comprising a nucleotide sequence selected from the group consisting of the nucleotide sequences of SEQ ID NOs: 3 and 4, or the complements thereof; and  
       (ii) growing said cell under conditions suitable to produce said polypeptide.  
     
     
       30. A composition comprising an isolated, purified, or recombinant polynucleotide consisting of the nucleotide sequences of SEQ ID NOs: 1, 2, or the complements thereof.